Variant report

Variant	esv2759196
Chromosome Location	chr3:162183462-162226821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:196)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:196 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:162196526-162196643	K562	blood:	n/a	n/a
2	ATF3	chr3:162210124-162210804	A549	lung:	n/a	n/a
3	BACH1	chr3:162205043-162205091	H1-hESC	embryonic stem cell:	n/a	chr3:162205077-162205091
4	BCL3	chr3:162210121-162210895	A549	lung:	n/a	n/a
5	CEBPB	chr3:162209758-162210932	A549	lung:	n/a	chr3:162210491-162210504
6	CEBPB	chr3:162219248-162219620	IMR90	lung:	n/a	chr3:162219429-162219440
7	CEBPB	chr3:162209757-162210919	IMR90	lung:	n/a	chr3:162210491-162210504
8	CEBPB	chr3:162219267-162219549	K562	blood:	n/a	chr3:162219429-162219440
9	CEBPB	chr3:162209604-162211122	A549	lung:	n/a	chr3:162210491-162210504
10	CEBPB	chr3:162205022-162205310	IMR90	lung:	n/a	n/a
11	CEBPB	chr3:162209752-162210155	MCF-7	breast:	n/a	n/a
12	CEBPB	chr3:162219243-162219812	A549	lung:	n/a	chr3:162219429-162219440
13	CEBPB	chr3:162219255-162219607	HepG2	liver:	n/a	chr3:162219429-162219440
14	CEBPB	chr3:162209739-162210089	MCF-7	breast:	n/a	n/a
15	CEBPB	chr3:162209674-162210107	A549	lung:	n/a	n/a
16	CEBPB	chr3:162209719-162210974	Hela-S3	cervix:	n/a	chr3:162210491-162210504
17	CEBPB	chr3:162210151-162210916	A549	lung:	n/a	chr3:162210491-162210504
18	CTCF	chr3:162207740-162207890	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr3:162207860-162208010	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr3:162207760-162207910	AG10803	skin:	n/a	n/a
21	CTCF	chr3:162207760-162207910	HCM	heart:	n/a	n/a
22	CTCF	chr3:162207860-162208010	RPTEC	kidney:	n/a	n/a
23	CTCF	chr3:162207760-162207910	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr3:162207820-162207970	BE2_C	brain:	n/a	n/a
25	CTCF	chr3:162207760-162207910	HMEC	breast:	n/a	n/a
26	CTCF	chr3:162207800-162207950	HVMF	connective:	n/a	n/a
27	CTCF	chr3:162207728-162207935	LNCaP	prostate:	n/a	n/a
28	CTCF	chr3:162207820-162207970	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr3:162207800-162207950	AG10803	skin:	n/a	n/a
30	CTCF	chr3:162207806-162207883	Gliobla	brain:	n/a	n/a
31	CTCF	chr3:162207660-162207810	HMEC	breast:	n/a	n/a
32	CTCF	chr3:162207742-162207875	Fibrobl	skin:	n/a	n/a
33	CTCF	chr3:162207725-162207920	GM12878	blood:	n/a	n/a
34	CTCF	chr3:162215024-162215029	GM13976	blood:	n/a	n/a
35	CTCF	chr3:162207705-162207892	T-47D	breast:	n/a	n/a
36	CTCF	chr3:162207760-162207910	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr3:162207777-162207925	LNCaP	prostate:	n/a	n/a
38	CTCF	chr3:162214948-162215020	GM13976	blood:	n/a	n/a
39	CTCF	chr3:162207740-162207890	Caco-2	colon:	n/a	n/a
40	CTCF	chr3:162212277-162212312	LNCaP	prostate:	n/a	n/a
41	CTCF	chr3:162207720-162207870	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr3:162207696-162207973	Medullo	brain:	n/a	n/a
43	CTCF	chr3:162207780-162207930	HCM	heart:	n/a	n/a
44	CTCF	chr3:162207751-162207879	ProgFib	skin:	n/a	n/a
45	CTCF	chr3:162207740-162207890	HEK293	kidney:	n/a	n/a
46	CTCF	chr3:162207840-162207990	HFF	foreskin:	n/a	n/a
47	CTCF	chr3:162207780-162207930	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:162200000-162200150	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:162207741-162207971	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:162207660-162207810	HFF	foreskin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:162210236-162210286	HAEpiC	amniotic membrane:	n/a
2	chr3:162210236-162210286	K562	blood:	n/a
3	chr3:162210236-162210286	SAEC	small airway:	n/a
4	chr3:162210236-162210286	GM06990	blood:	n/a
5	chr3:162210236-162210286	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:162210236-162210286	PFSK-1	brain:	n/a
7	chr3:162210236-162210286	PrEC	prostate:	n/a
8	chr3:162210236-162210286	NB4	blood:	n/a
9	chr3:162210236-162210286	SK-N-MC	brain:	n/a
10	chr3:162210236-162210286	PANC-1	pancreas:	n/a
11	chr3:162210236-162210286	HEEpiC	esophagus:	n/a
12	chr3:162210236-162210286	MCF10A-Er-Src	breast:	n/a
13	chr3:162210236-162210286	HRE	kidney:	n/a
14	chr3:162210236-162210286	HIPEpiC	eye:	n/a
15	chr3:162210236-162210286	ProgFib	skin:	n/a
16	chr3:162210236-162210286	SKMC	muscle:	n/a
17	chr3:162210236-162210286	HCF	heart:	n/a
18	chr3:162210236-162210286	NH-A	brain:	n/a
19	chr3:162210236-162210286	HRCEpiC	kidney:	n/a
20	chr3:162210236-162210286	AG04450	lung:	fetal
21	chr3:162210236-162210286	HCM	heart:	n/a
22	chr3:162210236-162210286	HCT-116	colon:	n/a
23	chr3:162210236-162210286	CMK	blood:	n/a
24	chr3:162210236-162210286	NHDF-neo	bronchial:	n/a
25	chr3:162210236-162210286	Hela-S3	cervix:	n/a
26	chr3:162210236-162210286	AG09319	gingival:	n/a
27	chr3:162210236-162210286	HEK293	kidney:	embryo
28	chr3:162210236-162210286	RPTEC	kidney:	n/a
29	chr3:162210236-162210286	HRPEpiC	eye:	n/a
30	chr3:162210236-162210286	ECC-1	luminal epithelium:	n/a
31	chr3:162210236-162210286	Jurkat	blood:	n/a
32	chr3:162210236-162210286	AG09309	skin:	n/a
33	chr3:162210236-162210286	T-47D	breast:	n/a
34	chr3:162210236-162210286	AG04449	skin:	fetal
35	chr3:162210236-162210286	MCF-7	breast:	n/a
36	chr3:162210236-162210286	HepG2	liver:	n/a
37	chr3:162210236-162210286	BJ	skin:	n/a
38	chr3:162210236-162210286	NT2-D1	testis:	n/a
39	chr3:162210236-162210286	SK-N-SH	brain:	n/a
40	chr3:162210236-162210286	A549	lung:	n/a
41	chr3:162210236-162210286	AG10803	skin:	n/a
42	chr3:162210236-162210286	Caco-2	colon:	n/a
43	chr3:162210236-162210286	U87	brain:	n/a
44	chr3:162210236-162210286	GM19239	blood:	n/a
45	chr3:162210236-162210286	SK-N-SH_RA	brain:	n/a
46	chr3:162210236-162210286	BE2_C	brain:	n/a
47	chr3:162210236-162210286	HCPEpiC	choroid plexus:	n/a
48	chr3:162210236-162210286	HL-60	blood:	n/a
49	chr3:162210236-162210286	HUVEC	blood vessel:	n/a
50	chr3:162210236-162210286	GM12878	blood:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTSSB-7	chr3:162204329-162204737	NONHSAT093022

No data

Variant related genes	Relation type
TOMM22P6	TF binding region
TOMM22P6	CpG island

Extended variants
information (count: 364 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540049872	chr3:162204014-162204015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527816990	chr3:162204015-162204016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371533636	chr3:162204016-162204017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116210561	chr3:162204033-162204034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563895064	chr3:162204041-162204042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531404182	chr3:162204105-162204106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192521070	chr3:162204150-162204151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571754928	chr3:162204160-162204161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183873356	chr3:162204163-162204164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555303387	chr3:162204206-162204207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575638335	chr3:162204215-162204216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75880301	chr3:162204222-162204223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77799281	chr3:162204241-162204242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397801930	chr3:162204250-162204251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564632182	chr3:162204251-162204252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576949913	chr3:162204252-162204253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545987279	chr3:162204286-162204287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75268831	chr3:162204298-162204299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528347653	chr3:162204306-162204307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539287039	chr3:162204327-162204328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568053154	chr3:162204448-162204449	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs139309319	chr3:162204507-162204508	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs530573058	chr3:162204518-162204519	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188539567	chr3:162204528-162204529	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs371388498	chr3:162204548-162204549	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs570560007	chr3:162204584-162204585	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs375256749	chr3:162204589-162204590	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539183001	chr3:162204603-162204604	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546745609	chr3:162204605-162204606	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs115860126	chr3:162204630-162204631	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs535740936	chr3:162204634-162204635	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555687010	chr3:162204641-162204642	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs144134904	chr3:162204647-162204648	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs78312447	chr3:162204650-162204651	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs557884979	chr3:162204675-162204676	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs79479986	chr3:162204676-162204677	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs144280136	chr3:162204758-162204759	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs540732618	chr3:162204772-162204773	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181369169	chr3:162204804-162204805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573115980	chr3:162204845-162204846	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542138478	chr3:162204857-162204858	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562040400	chr3:162204882-162204883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78957676	chr3:162204912-162204913	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs73163527	chr3:162204914-162204915	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186084570	chr3:162204968-162204969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532826074	chr3:162205006-162205007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146522864	chr3:162205011-162205012	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566723090	chr3:162205017-162205018	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529473625	chr3:162205073-162205074	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549250858	chr3:162205079-162205080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162204000-162204800	Enhancers	Dnd41	blood
2	chr3:162204800-162213000	Weak transcription	Dnd41	blood
3	chr3:162205400-162206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:162205800-162206200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr3:162206200-162210000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:162208800-162209200	Enhancers	A549	lung
7	chr3:162209200-162209600	Weak transcription	A549	lung
8	chr3:162209600-162209800	Enhancers	Osteobl	bone
9	chr3:162209600-162210000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:162209600-162210200	Enhancers	A549	lung
11	chr3:162209600-162211400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:162209800-162210000	Flanking Active TSS	Osteobl	bone
13	chr3:162209800-162210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:162209800-162211000	Enhancers	Hela-S3	cervix
15	chr3:162209800-162211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:162209800-162211200	Enhancers	NH-A	brain
17	chr3:162209800-162211200	Enhancers	NHDF-Ad	bronchial
18	chr3:162210000-162210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:162210000-162210200	Enhancers	Osteobl	bone
20	chr3:162210000-162210400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:162210000-162210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:162210000-162211600	Enhancers	HSMM	muscle
23	chr3:162210200-162210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:162210200-162210400	Flanking Active TSS	A549	lung
25	chr3:162210200-162210600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:162210200-162210600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:162210200-162210600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:162210200-162210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:162210200-162210600	Flanking Active TSS	Osteobl	bone
30	chr3:162210200-162210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:162210200-162211200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:162210200-162211200	Enhancers	Fetal Heart	heart
33	chr3:162210200-162211200	Enhancers	HSMMtube	muscle
34	chr3:162210400-162210800	Active TSS	A549	lung
35	chr3:162210600-162211000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:162210600-162211000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:162210600-162211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:162210600-162211200	Enhancers	Osteobl	bone
39	chr3:162210600-162212000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:162210800-162211400	Enhancers	A549	lung
41	chr3:162211000-162211200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr3:162211200-162212000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr3:162217200-162217400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:162224800-162226000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:162225000-162225800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:162225400-162225800	Enhancers	HSMM	muscle

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